Results: 3

1.
Figure 2

Figure 2. From: Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Clinical characteristics of two Norwegian patients classified as having CISS1. (a) Patient 15, in infancy, presenting contractures in elbows and knees. (b) Patient 15, showing ocular and oropharyngeal contractions and chubby cheeks. (c) Patient 15, with typical camptodactyly of the hand. (d) Patient 16, at the age of 18 years, with camptodactyly of both hands. (e) Patient 16, at the age of 18 years, presenting micrognathia, kyphosis, scoliosis and flexion contractures of the elbows.

Jana Herholz, et al. Eur J Hum Genet. 2011 May;19(5):525-533.
2.
Figure 3

Figure 3. From: Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Structure of the human CRLF1 gene and protein. (a) Relative positions of the mutations found in both CS and CISS1. (b) Alignment and amino-acid conservation for both Crisponi and CISS syndrome missense mutations analyzed. SIFT (Sorting Intolerant From Tolerant; http://sift.jcvi.org/) predicted that mutations Y75D, W76G, [N113I;L114P], W284C and L374R are not tolerated, whereas R81H is tolerated. Pink: CS mutations, green: CISS1 mutations.

Jana Herholz, et al. Eur J Hum Genet. 2011 May;19(5):525-533.
3.
Figure 1

Figure 1. From: Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Clinical characteristics of patients classified as having Crisponi syndrome. (ad) Patient 5, at 7 months of age, showing contractions of facial muscles, chubby cheeks and hypersalivation. (e and f) Patient 5 at 1 year of age with camptodactyly of both hands. (g and h) Patient 5 at 1 year of age with contractions of facial muscles (h). (i and j) Patient 5 at 5 years and 4 months of age, showing hyperkyphosis (i) and scoliosis (j). (k and l) Patient 5 at 5 years and 4 months of age with camptodactyly of both hands. (m) Typical fever course of a patient with Crisponi Syndrome (Patient 2) after birth. Graphs show the core temperature during 66 days of measurement with peaks up to 41°C.

Jana Herholz, et al. Eur J Hum Genet. 2011 May;19(5):525-533.

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